Frequency of RET/PTC rearrangement and somatic BRAF mutation was investigated in patients with papillary thyroid cancer (PTC) vis-a-vis relevant demographic and clinico-pathological features. The study group included 76 patients with a female/male ratio of 4.8:1; mean age - 45.7 +/- 9.7 yrs. BRAF mutation was identified in 49 (65%) (V600E--47, KSRWS600--1 and E585K--1). RET rearrangement was detected in 9 (12%): RET/PTC1--5, RET/PTC3--2, unspecified RET/PTC--1 and delta RET/PTC--1. It was age at diagnosis alone that proved to be consistently associated with BRAF mutations (p = 0.017). Younger tumor patients were mostly prone to RET/PTC rearrangement (p = 0.08). No correlation between mutation and clinico-pathological features was established.
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J Transl Med
November 2024
Dipartimento delle Scienze Mediche, Motorie e del Benessere, Università Degli Studi di Napoli Parthenope, Naples, Italy.
Background: There is a growing interest on the association of radiomic features with genomic signatures in oncology. Using computational methods, quantitative radiomic data are extracted from various imaging techniques and integrated with genomic information to construct predictive models aimed at advancing diagnostic strategies in cancer patient management. In this context, the aim of this systematic review was to assess the current knowledge on potential application of this association in patients with thyroid cancer (TC).
View Article and Find Full Text PDFFront Oncol
November 2024
Clinical Biochemistry Unit, Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Thyroid cancer (TC) is the most common endocrine cancer, which contributes to more than 43,600 deaths and 586,000 cases worldwide every year. Among the TC types, PTC and FTC comprise 90% of all TCs. Genetic modifications in genes are responsible for encoding proteins of mitogen-associated protein kinase cascade, which is closely related with numerous cellular mechanisms, including controlling programmed cell death, differentiation, proliferation, gene expression, as well as in genes encoding the PI3K (phosphatidylinositol 3-kinase)/protein kinase B (AKT) cascade, which has contribution in controlling cell motility, adhesion, survival, and glucose metabolism, have been associated with the TC pathogenesis.
View Article and Find Full Text PDFZhongguo Yi Xue Ke Xue Yuan Xue Bao
October 2024
Department of Ultrasound, China-Japan Friendship Hospital,Beijing 100029,China.
The prognosis of papillary thyroid carcinoma (PTC) is highly dependent on gene mutations and pathologic features.The common gene mutations in PTC include BRAF V600E,RET/PTC rearrangement,and RAS mutations.These mutations have been suggested to be associated with an increased risk of recurrence,poorer efficacy of postoperative radioactive iodine therapy,and reduced survival.
View Article and Find Full Text PDFAME Case Rep
July 2024
Pathology Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy.
Objective: Ionizing radiation generates genomic instability by promoting the accumulation of chromosomal rearrangements. The oncogenic translocation RET/PTC1 is present in more than 70% of radiation-induced thyroid cancers. Both RET and CCDC6, the genes implicated in RET/PTC1, are found within common fragile sites - chromosomal regions prone to DNA breakage during slight replication stress.
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